Tummolo A - Search Results

1

Food Habits and Lifestyle in Hyperphenylalaninemia Patients: Should These Be Monitored?

Dicintio A, Paterno G, Carella R, Ortolani F, Masciopinto M, De Giovanni D, Tummolo A. Dicintio A, et al. Among authors: tummolo a. Children (Basel). 2022 Aug 3;9(8):1164. doi: 10.3390/children9081164. Children (Basel). 2022. PMID: 36010054 Free PMC article.

2

Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome.

Piccinno E, Ortolani F, Vendemiale M, Tummolo A, Masciopinto M, Natale MP, De Luca A, Agolini E, Aloi C, Salina A, D'Annunzio G, Fischetto R, Papadia F. Piccinno E, et al. Among authors: tummolo a. Clin Genet. 2014 Aug;86(2):197-8. doi: 10.1111/cge.12260. Epub 2013 Oct 3. Clin Genet. 2014. PMID: 24117146 No abstract available.

3

Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype.

Tummolo A, Gabrielli O, Gaeta A, Masciopinto M, Zampini L, Pavone LM, Di Natale P, Papadia F. Tummolo A, et al. Case Rep Med. 2013;2013:891596. doi: 10.1155/2013/891596. Epub 2013 Nov 18. Case Rep Med. 2013. PMID: 24348578 Free PMC article.

4

Diabetes associated with dominant insulin gene mutations: outcome of 24-month, sensor-augmented insulin pump treatment.

Ortolani F, Piccinno E, Grasso V, Papadia F, Panzeca R, Cortese C, Felappi B, Tummolo A, Vendemiale M, Barbetti F. Ortolani F, et al. Among authors: tummolo a. Acta Diabetol. 2016 Jun;53(3):499-501. doi: 10.1007/s00592-015-0793-1. Epub 2015 Aug 4. Acta Diabetol. 2016. PMID: 26239141 Free PMC article. No abstract available.

5

Mechanisms of Enhanced Osteoclastogenesis in Alkaptonuria.

Brunetti G, Tummolo A, D'Amato G, Gaeta A, Ortolani F, Piacente L, Giordano P, Colucci S, Grano M, Papadia F, Faienza MF. Brunetti G, et al. Among authors: tummolo a. Am J Pathol. 2018 Apr;188(4):1059-1068. doi: 10.1016/j.ajpath.2017.12.008. Epub 2018 Jan 17. Am J Pathol. 2018. PMID: 29353057 Free article.

6

Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report.

Tummolo A, Melpignano L, Carella A, Di Mauro AM, Piccinno E, Vendemiale M, Ortolani F, Fedele S, Masciopinto M, Papadia F. Tummolo A, et al. J Med Case Rep. 2018 Apr 22;12(1):103. doi: 10.1186/s13256-018-1631-1. J Med Case Rep. 2018. PMID: 29679984 Free PMC article.

7

Novel autophagic vacuolar myopathies: Phenotype and genotype features.

Napolitano F, Terracciano C, Bruno G, De Blasiis P, Lombardi L, Gialluisi A, Gianfrancesco F, De Giovanni D, Tummolo A, Di Iorio G, Limongelli G, Esposito T, Melone MAB, Sampaolo S. Napolitano F, et al. Among authors: tummolo a. Neuropathol Appl Neurobiol. 2021 Aug;47(5):664-678. doi: 10.1111/nan.12690. Epub 2021 Feb 1. Neuropathol Appl Neurobiol. 2021. PMID: 33393119

8

COVID-19 and Inherited Metabolic Disorders: One-Year Experience of a Referral Center.

Tummolo A, Paterno G, Dicintio A, Stefanizzi P, Melpignano L, Aricò M. Tummolo A, et al. Children (Basel). 2021 Sep 6;8(9):781. doi: 10.3390/children8090781. Children (Basel). 2021. PMID: 34572213 Free PMC article.

9

Personalized Medicine in Mitochondrial Health and Disease: Molecular Basis of Therapeutic Approaches Based on Nutritional Supplements and Their Analogs.

Tragni V, Primiano G, Tummolo A, Cafferati Beltrame L, La Piana G, Sgobba MN, Cavalluzzi MM, Paterno G, Gorgoglione R, Volpicella M, Guerra L, Marzulli D, Servidei S, De Grassi A, Petrosillo G, Lentini G, Pierri CL. Tragni V, et al. Among authors: tummolo a. Molecules. 2022 May 29;27(11):3494. doi: 10.3390/molecules27113494. Molecules. 2022. PMID: 35684429 Free PMC article. Review.

10

Combined isobutyryl-CoA and multiple acyl-CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis.

Tummolo A, Leone P, Tolomeo M, Solito R, Mattiuzzo M, Lepri FR, Lorè T, Cardinali R, De Giovanni D, Simonetti S, Barile M. Tummolo A, et al. JIMD Rep. 2022 May 7;63(4):276-291. doi: 10.1002/jmd2.12292. eCollection 2022 Jul. JIMD Rep. 2022. PMID: 35822092 Free PMC article.

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